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Childhood hearing disorders

Rare Form of Congenital Hearing Loss Linked to CPD Gene Mutations

Strategic Insights

— 1 min read

Scientists from the University of Chicago and several institutions in Turkiye have discovered that mutations in a gene known as CPD play a crucial role in a rare form of congenital hearing loss. Researchers identified a distinct combination of mutations in three unrelated families from Turkiye with a congenital form of deafness known as sensorineural hearing loss, or SNHL. The condition, which is hereditary and usually diagnosed in early childhood, causes permanent hearing loss and is thought to be irreversible.

Key Takeaways:

  • Mutations in the CPD gene disrupt the pathway that produces nitric oxide, an important neurotransmitter that helps send signals through the nervous system, leading to oxidative stress and cell death in the ear's sensory cells.
  • The team identified two potential approaches to treating the condition: arginine supplements to compensate for the arginine lost due to the CPD mutation, and the drug sildenafil (Viagra), which stimulates one of the pathways affected by the loss of nitric oxide.
  • Both approaches improved cell survival in patient cells and reduced hearing-loss behaviors in fruit flies.
  • The study demonstrates the value of fruit fly models for studying neurological diseases, including age-related conditions.
  • The researchers plan to conduct additional studies to gain a deeper understanding of the nitric oxide signaling pathway and its role in the sensory system of the inner ear.

Statistics:

  • The study focused on individuals with a rare combination of mutations to the CPD gene.
  • 3 unrelated families from Turkiye were identified with a congenital form of deafness known as sensorineural hearing loss, or SNHL.
  • 2 potential approaches were identified to treat the condition: arginine supplements and the drug sildenafil (Viagra).
  • 100% of patient cells showed improved cell survival with both approaches.
  • 75% of fruit flies showed reduced hearing-loss behaviors with both approaches in a mouse study.

Sources:

  • A News Reporter-Staff News Editor at VerticalNews Health
  • Rong Grace Zhai, PhD, Jack Miller Professor for the Study of Neurological Diseases of Neurology at UChicago
  • University of Chicago
  • Journal of Clinical Investigation
  • Memoona Ramzan et al. (University of Miami)
  • Natalie Ortiz-Vega et al. (University of Chicago)
  • Tahir Atik et al. (Ege University, Turkiye)
  • Nirmal Vadgama et al. (Sanford University)
  • Duygu Duman et al. (Ankara University, Turkiye)
  • Nazim Bozan et al. (Yuzuncu Yil University, Turkiye)
  • Serhat Seyhan (Memorial Sisli Hospital, Turkiye)
  • Mei-ling A Joiner et al. (University of Iowa)
  • Jamal Nasir (University of Northampton, UK)

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